FHIR Osiris Implementation Guide
2.1.0 - ci-build

FHIR Osiris Implementation Guide - Local Development build (v2.1.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

Example Observation: fhir-osiris-annotation-1

Generated Narrative: Observation

Resource Observation "fhir-osiris-annotation-1"

Profile: Variant Annotation

status: final

category: Laboratory (Observation Category Codes#laboratory)

code: Genetic var assess (LOINC#69548-6)

subject: Patient/L304

value: Present (LOINC#LA9633-4)

hasMember:

derivedFrom: Observation/fhir-osiris-example-snp-1

component

code: DNA Change Type (LOINC#48019-4)

value: O15-4 (OSIRIS#O15-4)

component

code: Gene studied ID (LOINC#48018-6)

value: PI3K (#PI3K)

component

code: Prediction software (LOINC#LP91038-7)

value: SIFT (OSIRIS#SIFT)

component

code: Prediction of the variation effect over the protein (LOINC#LP70194-3)

value: 0.35

component

code: Confidence score (LOINC#93044-6)

value: Deleterious

component

code: Cyto loc ID (LOINC#48001-2)

value: exon 2 ()

component

code: Amino acid change (LOINC#48005-3)

value: p.E542K (Human Genome Variation Society nomenclature#p.E542K)

component

code: Amino acid change type (LOINC#48006-1)

value: Missense (LOINC#LA6698-0)

component

code: Struct var HGVS name (LOINC#81290-9)

value: C0439673 (Unified Medical Language System#C0439673)

component

code: DNA change (LOINC#48004-6)

value: c.1624G>A (Human Genome Variation Society nomenclature#c.1624G>A)

component

code: Incidence on the transcript (LOINC#LP232001-0)

value: C0439673 (Unified Medical Language System#C0439673)